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- NCIT_C61149 IAO_0000115 "Human LMNA wild-type allele is located within 1q22 and is approximately 25 kb in length. This allele, which encodes prelamin-A/C protein, plays a role in nuclear stability and chromatin structure. Mutations in the LMNA gene are associated with Charcot-Marie-Tooth disease, type 2B1, Hutchinson-Gilford progeria syndrome, Emery-Dreifuss muscular dystrophy, Malouf syndrome, autosomal dominant familial partial lipodystrophy type 2, lethal restrictive dermopathy, autosomal dominant limb girdle muscular dystrophy 1B and autosomal dominant dilated cardiomyopathy 1A.." @default.
- NCIT_C61149 NCIT_NHC0 "C61149" @default.
- NCIT_C61149 NCIT_P100 "150330" @default.
- NCIT_C61149 NCIT_P102 "NM_170707" @default.
- NCIT_C61149 NCIT_P106 "Gene or Genome" @default.
- NCIT_C61149 NCIT_P107 "LMNA wt Allele" @default.
- NCIT_C61149 NCIT_P108 "LMNA wt Allele" @default.
- NCIT_C61149 NCIT_P207 "C1881349" @default.
- NCIT_C61149 NCIT_P321 "4000" @default.
- NCIT_C61149 NCIT_P322 "CTRP" @default.
- NCIT_C61149 NCIT_P366 "LMNA_wt_Allele" @default.
- NCIT_C61149 NCIT_P96 "Lamin" @default.
- NCIT_C61149 NCIT_R130 NCIT_C17132 @default.
- NCIT_C61149 NCIT_R130 NCIT_C19779 @default.
- NCIT_C61149 NCIT_R130 NCIT_C20633 @default.
- NCIT_C61149 NCIT_R130 NCIT_C38784 @default.
- NCIT_C61149 NCIT_R130 NCIT_C39014 @default.
- NCIT_C61149 NCIT_R130 NCIT_C39049 @default.
- NCIT_C61149 NCIT_R130 NCIT_C39077 @default.
- NCIT_C61149 NCIT_R130 NCIT_C39106 @default.
- NCIT_C61149 NCIT_R130 NCIT_C39254 @default.
- NCIT_C61149 NCIT_R130 NCIT_C39699 @default.
- NCIT_C61149 NCIT_R130 NCIT_C39701 @default.
- NCIT_C61149 NCIT_R130 NCIT_C91454 @default.
- NCIT_C61149 NCIT_R130 NCIT_C91470 @default.
- NCIT_C61149 NCIT_R130 NCIT_C91484 @default.
- NCIT_C61149 NCIT_R130 NCIT_C91560 @default.
- NCIT_C61149 NCIT_R37 NCIT_C17828 @default.
- NCIT_C61149 NCIT_R37 NCIT_C20480 @default.
- NCIT_C61149 NCIT_R37 NCIT_C20748 @default.
- NCIT_C61149 NCIT_R37 NCIT_C40795 @default.
- NCIT_C61149 NCIT_R37 NCIT_C41517 @default.
- NCIT_C61149 NCIT_R40 NCIT_C12219 @default.
- NCIT_C61149 NCIT_R40 NCIT_C13282 @default.
- NCIT_C61149 NCIT_R40 NCIT_C13377 @default.
- NCIT_C61149 NCIT_R40 NCIT_C13432 @default.
- NCIT_C61149 NCIT_R40 NCIT_C13446 @default.
- NCIT_C61149 NCIT_R40 NCIT_C14024 @default.
- NCIT_C61149 NCIT_R40 NCIT_C14135 @default.
- NCIT_C61149 NCIT_R40 NCIT_C32221 @default.
- NCIT_C61149 NCIT_R40 NCIT_C34070 @default.
- NCIT_C61149 NCIT_R41 NCIT_C14182 @default.
- NCIT_C61149 NCIT_R41 NCIT_C14225 @default.
- NCIT_C61149 NCIT_R41 NCIT_C14234 @default.
- NCIT_C61149 NCIT_R41 NCIT_C14250 @default.
- NCIT_C61149 NCIT_R41 NCIT_C14262 @default.
- NCIT_C61149 NCIT_R41 NCIT_C14282 @default.
- NCIT_C61149 NCIT_R41 NCIT_C25796 @default.
- NCIT_C61149 NCIT_R41 NCIT_C79740 @default.
- NCIT_C61149 normalizedInformationContent "100" @default.
- NCIT_C61149 referenceCount "1" @default.
- NCIT_C61149 hasExactSynonym "CDCD1" @default.
- NCIT_C61149 hasExactSynonym "CDDC" @default.
- NCIT_C61149 hasExactSynonym "CMD1A" @default.
- NCIT_C61149 hasExactSynonym "CMT2B1" @default.
- NCIT_C61149 hasExactSynonym "Cardiomyopathy, Dilated 1A (Autosomal Dominant)" @default.
- NCIT_C61149 hasExactSynonym "EMD2" @default.
- NCIT_C61149 hasExactSynonym "FPL" @default.
- NCIT_C61149 hasExactSynonym "FPLD" @default.
- NCIT_C61149 hasExactSynonym "FPLD2" @default.
- NCIT_C61149 hasExactSynonym "HGPS" @default.
- NCIT_C61149 hasExactSynonym "IDC" @default.
- NCIT_C61149 hasExactSynonym "LDP1" @default.
- NCIT_C61149 hasExactSynonym "LFP" @default.
- NCIT_C61149 hasExactSynonym "LGMD1B" @default.
- NCIT_C61149 hasExactSynonym "LMN1" @default.
- NCIT_C61149 hasExactSynonym "LMNA wt Allele" @default.
- NCIT_C61149 hasExactSynonym "LMNC" @default.
- NCIT_C61149 hasExactSynonym "LMNL1" @default.
- NCIT_C61149 hasExactSynonym "Lamin A/C wt Allele" @default.
- NCIT_C61149 hasExactSynonym "Lamin A/C-Like 1 Gene" @default.
- NCIT_C61149 hasExactSynonym "Lamin-A/C Gene" @default.
- NCIT_C61149 hasExactSynonym "Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant) Gene" @default.
- NCIT_C61149 hasExactSynonym "MADA" @default.
- NCIT_C61149 hasExactSynonym "Mandibuloacral Dysplasia Type A Gene" @default.
- NCIT_C61149 hasExactSynonym "PRO1" @default.
- NCIT_C61149 hasExactSynonym "Progeria 1 (Hutchinson-Gilford Type) Gene" @default.
- NCIT_C61149 inSubset NCIT_C116977 @default.
- NCIT_C61149 inSubset NCIT_C142799 @default.
- NCIT_C61149 inSubset NCIT_C142800 @default.
- NCIT_C61149 type Class @default.
- NCIT_C61149 isDefinedBy ncit.owl @default.
- NCIT_C61149 label "LMNA wt Allele" @default.
- NCIT_C61149 subClassOf NCIT_C16612 @default.
- NCIT_C61149 subClassOf NCIT_C20744 @default.
- NCIT_C61149 subClassOf NCIT_C20745 @default.
- NCIT_C61149 subClassOf NCIT_C30073 @default.
- NCIT_C61149 subClassOf NCIT_C61148 @default.
- NCIT_C61149 subClassOf NCIT_C61149 @default.
- NCIT_C61149 equivalentClass B6091604c1d1b5196af0dfd320850ee84 @default.
- NCIT_C61149 equivalentClass Bc200eb8508c0a9ae4bd4334bec9c337e @default.